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At least 541 records · Page 30Linked to original sources
PubMedDate not supplied

Clinical and therapeutical evaluation of inflammatory aneurysms of the abdominal aorta.

Unexpected anatomical and clinical features of abdominal aortic aneurysm (AAA) may be encountered by the vascular surgeon creating technical problems that increase the normally low mortality rates of this affection. One such variant is the so called inflammatory aneurysm (IA) as a characteristic fibrosis involving the arterial wall and thus surrounding structure scan be observed. In our series of 525 patients affected by AAA the incidence of IA was about 4% (19 cases). Two groups of patients were considered: group A, including all the atherosclerotic patients, and group B 19 patients affected by IA. The latter group referred to a typical painful symptomatology in 84% of the cases: this element is of interest as only 20% of the cases of group A complained of pain. No other significant clinical or laboratory data were recorded which could allow the surgeon to perform a pre-operative differential diagnosis. In all 19 cases that underwent surgical treatment there was a 2-3 cm thick aneurysmal wall with a shiny white surface adhering to the IV portion of the duodenum, vena cava and iliac vessels and in some cases to the ureters. Histological examination of specimens of the aortic wall showed evident signs of atherosclerosis of the media and marked fibrotic thickening of the adventitia with the presence of lymphocyte aggregates: a sign of chronic inflammation. As what concerns indications and surgical treatment, there are no substantial differences. Pre-operative differential diagnosis can be made with CAT scan and ultrasound and the usual operative manoeuvres of aneurysmorrhaphy should be modified.

Aged↗
PubMed1983

[Reactive depression in adolescents].

On the basis of studying the characteristic features of the clinical pattern of depression in 105 patients, the author specifies four variants of psychogenic depressive states in adolescence: (1) the basic variant characterized by the development of typical depression; (2) a variant of subclinical psychogenic depressions with behavioral disturbances; (3) a variant of recurrent depressions; (4) a variant of the so called anaclitic depressions. Specific characteristics of their clinical picture and course were ascertained and the features distinguishing them from psychogenic depressions in adults are presented.

Adjustment Disorders↗
PubMedDate not supplied

[A faunistic approach to the classification of an animal population (exemplified by small terrestrial mammals of the Kopet-Dag)].

A floristic method of vegetation classification (after Braun-Blanquet) is applied for classification of animal communities. The latter, by analogy with vegetation, can be dividend into classificatory units differing mutually by their composition. Diagnostic species are used as a basis for such classification. Their names are used in producing syntaxonomic nomenclature of the animal population. Assembly is suggested as a principal classificatory unit within this approach. It is defined as multispecies assemblage of animals from various trophic levels, which form stable population combinations and are similar in their geographic and habitat distributions. The assembly can be further divided into subunits called subassembly and population variant. Five assemblies are identified and described for population of insectivores, rodents and lagomorphs in Kopet-Dag Mts (S. Turkmenistan).

Altitude↗
PubMed1995

Atypical osteomalacia after 2 year etidronate intermittent cyclic administration in osteoporosis.

A 68-year-old postmenopausal woman with osteoporosis received intermittent cyclic etidronate therapy (400 mg/day). No concomitant diseases were noted. A baseline transiliac bone biopsy showed a high bone turnover without impairment due to mineralization. After 2 years of treatment, she had increased osteoid volume, and mineralization lag time corresponded to a variant form of osteomalacia called atypical osteomalacia. No clinical consequence was observed. This is the first case report of such a mineralization defect due to 2 year intermittent cyclic etidronate therapy.

Aged↗
PubMed1996

[Bartter's syndrome. A condition with chronic hypokalemia].

Bartter's syndrome (BS) is a disease with severe hypokalaemia due to renal potassium wasting. The potassium loss is due to lesions at different sites within the renale tubule. Additional features include metabolic alkalosis, excess renal production of prostaglandins, hyperreninaemia, hyperaldosteronism and impaired pressor responses to exogenous angiotensin II. These secondary features are the result of renal potassium wasting. Symptoms are due to potassium deficiency, but many adult patients feel well despite marked hypokalaemia. The hypocalciuric variant of BS is called Gitelman's syndrome. These patients have a more benign course. The diagnosis of BS is one of exclusion, mainly of surreptitious vomiting, diuretic or laxative abuse. The primary treatment is potassium supplementation often in combination with potassium-sparing diuretics, prostaglandin inhibitors or ACE-inhibitors. With coexisting magnesium deficiency, magnesium supplementation might be effective.

Adult↗
PubMed1976

[Column chromatographic enrichment of "glucose-6-phosphate dehydrogenase vienna" (author's transl)].

Further biochemical investigations were performed in a case of glucose-6-phosphate dehydrogenase deficiency--called the "Vienna" deficiency variant on account of its biochemical characterization. It was found that the "Vienna" deficiency variant shows increased enzyme protein at a reduced specific activity. Gel filtration on Sephadex-G-200 produced a molecular weight identical with that of the normoenzyme; the different cochromatographic behaviour on hydroxylapatite appears attributable to a sequence modification of the amino acids.

Adult↗
PubMed1998

[The relationship between genetic polymorphisms and disease, illustrated by the renin-angiotensin-aldosterone system and cardiovascular disease].

The role of molecular genetics in the pathophysiology of various diseases is becoming clearer and clearer. In the field of cardiovascular diseases, molecular genetic aspects have been shown to play a definite role in the aetiology of these diseases. Several molecular-genetic variations called polymorphisms, occur in the population. The genes encoding the different components of the reninangiotensin-aldosterone system (RAAS), an important system in the regulation of the function and structure of the heart and vascular wall, also display polymorphisms. For some of these polymorphisms associations with various cardiovascular and renal diseases have been described. At present, this is particularly clear for the relation between angiotensin-converting-enzyme (ACE) polymorphism and the incidence of atherosclerotic complications and diabetic nephropathy, and for the relation between so-called M235 T-variant of the angiotensinogen gene and hypertension. Future research will have to show where it is worthwhile to use these and other polymorphisms as a marker for genetic risk. In what way the different RAAS-polymorphisms relate to functional abnormalities is as yet unclear, as are the potential therapeutic implications.

Angiotensin II↗
PubMed1986

[Cytological verification of histological variants of lymphogranulomatosis].

Punch biopsies of the affected lymph nodes from 60 patients with lymphogranulomatosis were examined in order to verify cytologically the histological variants of the disease. It was established by a correlation between the cytological picture and histological diagnosis that the morphological structure of Berezovsky--Sternberg cells is the basis for the cytological verification of the lymphogranulomatosis histological type. Cells with polymorphic nuclei containing large nucleoli are characteristic of a mixed-cell variant of the tumour, So-called lacunar cells with a clear cytoplasm and multiple small monomorphic nuclei with small nucleoli are specific for a nodular variant. Pronounced cell polymorphism is characteristic of the so-called reticular type with suppression of lymphoid tissue; this type of lymphogranulomatosis is verified tentatively if an essential number of lymphoid cells are present in smears.

Diagnosis, Differential↗
PubMed2002

Hodgkin's disease variant of Richter's transformation: a case report.

Hodgkin's disease rarely develops in patients with B-chronic lymphocytic leukemia. Patients developing Hodgkin's disease after the diagnosis of chronic lymphocytic leukemia have been called the "Hodgkin's disease variant of Richter's transformation." We present a 62-yr-old man with a 17-mo history of chronic lymphocytic leukemia, who clinically and hematologically on remission was admitted to our clinic because of rapidly developing right cervical lymphadenopathy. He was diagnosed with lymph node biopsy as a mixed-cellularity Hodgkin's disease.

Fatal Outcome↗
PubMed2006

The opioid ligand binding of human mu-opioid receptor is modulated by novel splice variants of the receptor.

The pharmacological actions of morphine and morphine-like drugs, such as heroin, mediate primarily through the mu-opioid receptor (MOR). It has been proposed that the functional diversity of MOR may be related to alternative splicing of the MOR gene. Although a number of MOR mRNA splice variants have been reported, their biological function has been controversial. In this study, two novel splice variants of the human MOR gene were discovered. Splice variants 1 and 2 (here called the SV1 and SV2) retain different portions of intron I. In vitro translation of SV1 and SV2 produced proteins with the predicted molecular weights. The splice variant proteins were identical to the wild-type MOR-1 up to the first transmembrane domains, but were different after the first intracellular loop domains. SV1 and SV2 of hMOR were present in human neuroblastoma NMB cells and human whole brain confirmed by RT-PCR. In a receptor binding assay, cells expressing the SV1 and SV2 do not exhibit binding to [(3)H]diprenorphine. The formations of MOR.SV1 and MOR.SV2 heterodimers were demonstrated by co-immunoprecipitation and bioluminescence resonance energy transfer between MOR and splice variants. Co-transfection of MOR-GFP and SV-DsRed gene showed that MOR and SV protein co-localized at the cytoplasmic membrane. In NMB cells expressing human MOR gene, transfection of SV1 or SV2 reduced binding activity of the endogenous MOR. These data support a potential role of SV1 and SV2 proteins as possible biological modulator of human mu-opioid receptor.

Alternative Splicing↗
PubMed1985

Some anatomical variants and pitfalls in computed tomography of the trachea and mainstem bronchi. II. Compression or anatomical variants?

472 computed tomographic (CT) examinations in 448 patients were reviewed for depression of the wall of the trachea and mainstem bronchi. Depression was defined as a neutral term, not indicating pressure exerted upon the wall. Such depressions appeared to occur very frequently as a variant. Special attention is paid to the so-called azygos vein indentation. The most marked depression variants in our series are reproduced. When a depression is found in contiguity with a pathological mass and does not exceed the range of the variants, one cannot be sure that the mass is indeed the cause of this depression. In patients with bronchogenic carcinoma, depression of the wall of the trachea or mainstem bronchus seems to be no better sign for the metastatic nature of lymphadenopathy than size per se.

Azygos Vein↗
PubMed1981

[Puberty].

Puberty commences in girls 1.5-2 years earlier than in boys. Whereas the production of sexual hormone in the female increases gradually, testosterone secretion in the male rises steeply within two years. In connection with this boys are suffering more often from emotional disturbances than girls during puberty. During the last 150 years the onset of puberty has considerably advanced. In the middle of the last century, menarche occurred at age 17; today, however, at age 12.5. This secular acceleration is caused by improved nutrition, mainly with proteins. Presupposition for the earlier onset of puberty is an earlier arriving at the developmental stage (height, weight, bone maturation) which formerly was characteristic for prepubertal children of 10/11 years. Also the physiologic variants, i.e., the so-called early normal puberty and constitutional delay of growth and adolescence, base on prepubertal differences in growth velocity and growth hormone secretion. In contrast to this, the pathologic variants of sexual development, i.e., true sexual precocity and pubertas tarda s.s., are caused by various pathologic processes located in one of the three areas: hypothalamus, pituitary, or gonads.

Adolescent↗
PubMed1978

[Cranio-vertebral junction anomalies and osseous dysplasias (author's transl)].

The cartilaginously preformed occipital region of the cranium is ontogenetically a part of the backbone. The cranio-vertebral junction is unique among the other junctional areas of the backbone: 1. It has not yet been proved that different combinations of cranial and caudal junction anomalies are not combined with cervical junction anomalies. 2. The assimilations of the atlas which are considered to be progressive and regressive variants and the so-called manifestations of the occipital vertebra, i.e. diametrically opposed members of a developmental line occur together with a frequency that is inconsistent with the above assumption. 3. Both variants occur combined with the most serious developmental abnormalities of the cranio-vertebral junction. All described occipital-cervical abnormalities may have clinical significance with extends far beyond an assessment as simple variants (deviations) and includes extremely serious, life-threatening osseous deformations.

Bone Diseases, Developmental↗
PubMed1984

[Nonsense RNA: a tool for specifically inhibiting the expression of a gene in vivo].

We describe a general technique to inhibit gene expression in eukaryotic cells. The gene we chose to inhibit was the E. coli LacZ gene (encoding beta-galactosidase), which has previously been cloned into a eukaryotic expression vector [1]. This plasmid is called pCH110. We constructed a variant of pCH110 in which we flipped a 2566 base pair 5' fragment of the LacZ gene into the antiparallel orientation. The plasmid containing this mutated LacZ gene is called pNSLacZ (NS signifies non-sense coding sequence). When equal amounts of pCH110 and pNSLacZ are co-transfected into 3T6 mouse fibroblasts, the beta-galactosidase activity is decreased by approximately a factor of ten. Increasing the ratio of pNSLacZ to pCH110 above 1:1 does not appreciably increase the level of inhibition. Next, we prove the specificity of the inhibition by adding a third gene to the transfection mixture. For this purpose, we used pSVneo beta, a plasmid which expresses a phosphotransferase. We found that even when the beta-galactosidase activity was diminished by a factor of 10, the phosphotransferase activity was unaffected. Therefore, we have demonstrated that: the presence of an antiparallel copy of the LacZ gene results in a significant and specific diminution of the LacZ gene's expression; only a fraction of the LacZ gene needs to be in the antiparallel orientation in order to observe this effect. These results suggest that this technique can serve as a tool to decrease the level of gene expression in order to study the function of specific genes, or as a therapeutic manoeuvre in the treatment of disorders of abnormal gene expression.

Animals↗
PubMed2003

[Multiple sclerosis: disease entity, subtypes and variants, and diagnostic criteria].

Multiple sclerosis (MS) is the prototypic inflammatory demyelinating disorder of the central nervous system (CNS). The increasing application of new powerful technologies during recent years has yielded new concepts and opened a new horizon. The prototype MS is called classical MS or Charcot variant and is characterized by the presence of the lesions in all parts of the CNS, consistently including cerebrum and/or cerebellum. It takes a relapsing-remitting course initially but, in most of the Caucasian cases, eventually turns into the chronic progressive stage (secondary chronic progressive form). Primary progressive MS takes slowly progressive course from the beginning. Both types of chronic forms are relatively rare in Japanese. Morphologically, the MS lesion is characterized by the key features: perivenular demyelination, inflammation gliosis, and axonal damage. The heterogeneity of MS lesions has been clearly established. Both T-cell and B-cell (antibody) mediated mechanisms are working and the primary target for the autoimmune damage could be myelin and/or oligodendroglia. Axonal damage could be most extensive within the first year after the disease onset. The list of candidate antigens includes myelin basic protein, proteolipid protein, and myelinoligodendroglialglycoprotein, but other non-myelin/oligodendroglial antigens such as S-100 protein also could induce CNS inflammation. Viral and microbial proteins are shown to share epitopes with those candidate antigens and, hypothetically, could induce CNS inflammation when infected to humans. New diagnostic criteria(McDonald et al, 2001) had been proposed and now include MRI criteria for morphological diagnosis and temporal activities. A Criterion for primary chronic progressive form is also included. The MS working group of Japanese MHL is now preparing for a new criteria for Japanese MS patients.

Animals↗
PubMed1983

A transposable element inserted just 5' to a Drosophila glue protein gene alters gene expression and chromatin structure.

The Drosophila Sgs-4 gene directs the developmentally regulated production of a glue protein in the salivary glands of mature larvae. Previous work suggests that Sgs-4 expression requires a remote upstream region that becomes hypersensitive to DNAase I digestion when the gene is active. Here we describe a variant Sgs-4 locus that has a 1.3 kb DNA insert separating the gene from the remote hypersensitive region. This insert defines a new family of transposable elements that we call hobo. Expression from the variant locus is reduced 50 to 100 fold, and rather than the one, normal Sgs-4 transcript, there are now four transcripts, two starting within the hobo element. These multiple transcripts are still expressed only in late larval salivary glands, implying that developmental regulation is unaffected by changes in the site of transcript initiation. When Sgs-4 is active, the remote DNAase I-hypersensitive region, now even more remote due to the insert, still forms over its normal sequences. In contrast, new hypersensitive sites form within hobo near the starts of the new transcripts.

Animals↗
PubMed1984

Genetic study of Tunisian Berbers. II. Alpha 1-antitrypsin (Pi) polymorphism: report of a new allele (Pi S Berber).

The alpha 1-antitrypsin (alpha 1-AT) (Pi) polymorphism has been studied in three Berber groups of Tunisia by high-resolution isoelectric focusing. The results showed that actual Tunisian Berbers are mainly Caucasoid. A new variant of alpha 1-AT, tentatively called Pi S Berber, was found in the three Berber groups. On isoelectric focusing this variant was slightly more cathodal than the product of the usual Pi S allele. Family studies showed that the Gm-Pi linkage is probably close when the Pi locus supports the Pi P allele which is responsible for moderate (30%) serum alpha 1-AT deficiency.

Alleles↗
PubMed1989

Biological function of the rotavirus protein VP4: observations on porcine isolates from China.

Rotaviruses isolated from pigs in China were grown in MA104 cells. One tissue-culture-adapted isolate consisted of two subpopulations (variants), the RNA profiles of which differed in the relative migration of RNA segment 4 only. The variants were separated by plaque purification and by recovery from limiting dilutions and remained genetically stable. The variant possessing the slower migrating RNA segment 4, called 4S, grew faster and formed large plaques after 4-6 days incubation, whereas the variant possessing the faster migrating RNA segment 4, called 4F, grew more slowly and formed only microscopic plaques after 10-14 days incubation. The protein product of the 4F RNA occurred in much lower concentration in infected cells than the product of the 4S RNA. The RNA segments 4 of the two variants were found to be closely related when tested by dot hybridization under stringent conditions. The 4S RNA is more resistant to denaturation with methyl mercuric hydroxide than is the 4F RNA. The relevance of these findings to the biological functions of rotaviruses is discussed.

Animals↗